ZFP57

ZFP57 (ZFP57 Zinc Finger Protein) is a Protein Coding gene encodes the protein which is a zinc finger protein containing a KRAB domain.. Diseases associated with ZFP57 include Diabetes Mellitus, Transient Neonatal, 1 and Diabetes Mellitus, 6Q24-Related Transient Neonatal. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

Full Name

ZFP57 Zinc Finger Protein

Function

Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:18622393, PubMed:30602440).
Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440).
Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity).

Biological Process

Biological Process negative regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process regulation of gene expression by genomic imprinting Source:UniProtKB1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication

Cellular Location

Nucleus
Binds various differentially methylated regions (DMR).

Involvement in disease

Diabetes mellitus, transient neonatal, 1 (TNDM1):
An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.